Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.

INTRODUCTION

An apparent re-emergence of kernicterus has been recently reported, with some cases occurring in otherwise healthy breastfed newborn.

METHODS

We describe a case of kernicterus in a term Caucasian newborn.

RESULTS

An exceptional polymorphism of UGT1A1 gene promoter co-existed with asymptomatic inherited spherocytosis, due to erythroid anion exchange (band-3) deficiency. Both concurred to the development of severe neonatal hyperbilirubinaemia.

CONCLUSION

As some cases of kernikterus remain unresolved, haemolytic diseases and bilirubin metabolism disorders should be carefully investigated in unexplained severe neonatal hyperbilirubinaemia.